Data from: Metabolite profile of a mouse model of Charcot-Marie-Tooth type 2D neuropathy: implications for disease mechanisms and interventions

负责人：

Burgess, Robert W.

关键词：

Peripheral neuropathy Spinal cord Sciatic nerve Metabolomics Mass Spectrometry tRNA synthetase

DOI：

doi:10.5061/dryad.ng07t

摘要：

in the peripheral nervous system. Charcot-Marie-Tooth type 2D neuropathy (CMT2D) is caused by dominant mutations in glycyl tRNA synthetase (GARS). Mutations in the mouse Gars

Exploration of the role of ARHGEF10 in human disease

负责人：

关键词：

CMT Biochemistry and Molecular Medicine ARHGEF10 Charcot-Marie-Tooth Disease cancer neuropathy peripheral neuropathy protein rare disease genetics

DOI：

doi:10.25549/usctheses-c40-496015

摘要：

Rho guanine nucleotide exchange factors (RhoGEFs) are known for their role as catalysts of Rho family small guanosine triphosphatase (Rho GTPase) activation. RhoGTPases act as molecular switches, playing a critical role in regulating the actin cytoskeleton, therefore affecting many pathways involved in development and disease. With a recent link made between different RhoGEFs and RhoGTPases in neurodegenerative disease, Rho guanine nucleotide exchange factor 10 (ARHGEF10) has become a new focus of study. While the function of ARHGEF10 is not completely understood, its function is related to several human diseases including neurodegenerative diseases, cancer, neuropsychiatric disorders, and stroke. In this literature review, I analyze what is known about the structure and function of ARHGEF10 and discuss its mechanistic role in disease, particularly in the context of neurodegenerative disease. In Chapter 1, I evaluate what is known about RhoGTPases and RhoGEFs in general, examining structure, function, and disease implication. In Chapter 2, I assess the structure, function, and mechanisms of ARHGEF10 specifically. In Chapter 3, I review the diseases ARHGEF10 is involved in, with special focus on Charcot-Marie-Tooth disease, a peripheral neuropathy affecting 1 in 2500 people. In Chapter 4, I review the animal models currently used in the study of ARHGEF10-related diseases and discuss how these models can help further our understanding of ARHGEF10 function. ARHGEF10 is a critical gene in the future of disease research, and this review will underscore why it should be studied more in depth.

Data from: Clinical Reasoning: Pes cavus and neuropathy: think beyond Charcot-Marie-Tooth disease

负责人：

关键词：

Clinical Neurology;Leukodystrophies;Neuromuscular Disease

DOI：

doi:10.5061/dryad.876r5m5

摘要：

owing demyelinating neuropathy (table e-1, doi.org/10.5061/dryad.876r5m5). With her history and EMG/NCS findings, she was diagnosed with Charcot-Marie-Tooth (CMT